Stem Cells in NF1 Patients With Tumors of the Central Nervous System
Megadott ok: Suspended due to cessation of funding
Key facts
- Where
- Washington D.C., Egyesült ÁllamokSee the site
Where in Egyesült Államok
- Children's National Medical CenterWashington D.C., Egyesült ÁllamokNo longer taking part
Trial details
- Who runs it
- Roger Packer
- Trial code
- NCT03332030
- Record updated
- 2024. február 7.
- Original description
Objectives 1. Establish an induced pluripotent stem cell (iPSC) bank for phenotypically well-characterized patients with NF1.Read full original descriptionShow less
Development of Stem Cell Lines in Children With Neurofibromatosis Type 1 and Tumors of the Central Nervous System
Objectives 1. Establish an induced pluripotent stem cell (iPSC) bank for phenotypically well-characterized patients with NF1.
2. Develop isogenic NF1 wild-type (NF1+/+), NF1 heterozygous (NF1+/-) and NF1 homozygous (NF1-/-) iPSC lines from individual patients using CRISPR/CAS9 technology.
3. Differentiate and characterize disease-relevant brain cells such as excitatory and inhibitory neurons, astrocytes and oligodendrocytes from patient-specific iPSC lines.
4. Screen and identify the drug(s) that can reverse or alleviate the disease phenotypes.
Inclusion: Males or females of any age; Confirmed diagnosis of NF1; Willingness to submit blood sample and collect clinical history; MRI documentation confirming tumor location in the central nervous system; For study group d, "Non-NF1 full sibling for control purposes" subject must be a full sibling of a patient with confirmed diagnosis of NF1 and willing to submit blood sample and collect clinical history.
Exclusion: Does not have diagnosis of NF1 and CNS Tumor; Does not have full-sibling with NF1 and CNS Tumor diagnosis (for unaffected sibling cohort).